Variant report

Variant	rs7594853
Chromosome Location	chr2:67872862-67872863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67871857..67874448-chr2:67877443..67879298,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12327999	1.00[AMR][1000 genomes]
rs57073040	1.00[AMR][1000 genomes]
rs57725474	1.00[AMR][1000 genomes]
rs58149635	1.00[AMR][1000 genomes]
rs59374870	1.00[AMR][1000 genomes]
rs60750213	1.00[AMR][1000 genomes]
rs60968435	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747700	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67866800-67884200	Weak transcription	Aorta	Aorta
2	chr2:67869400-67873600	Weak transcription	Pancreas	Pancrea
3	chr2:67871400-67873400	Enhancers	Fetal Intestine Small	intestine
4	chr2:67871400-67873600	Enhancers	Fetal Intestine Large	intestine
5	chr2:67871600-67873800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:67871800-67873000	Enhancers	Hela-S3	cervix
7	chr2:67872000-67873000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr2:67872000-67873200	Enhancers	Fetal Heart	heart
9	chr2:67872000-67873600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:67872000-67873600	Weak transcription	Right Atrium	heart
11	chr2:67872200-67873000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:67872400-67873000	Weak transcription	HSMMtube	muscle
13	chr2:67872400-67873400	Weak transcription	Right Ventricle	heart
14	chr2:67872400-67873800	Enhancers	HSMM	muscle
15	chr2:67872400-67876200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:67872600-67873400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:67872600-67873600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:67872600-67873600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:67872600-67874000	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:67872800-67873200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:67872800-67873800	Weak transcription	Stomach Mucosa	stomach
22	chr2:67872800-67874000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:67872800-67875600	Weak transcription	Fetal Lung	lung
24	chr2:67872800-67876800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links